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1. Clinical utility of diffusion MRI‐derived measures of cortical microstructure in a real‐world memory clinic setting

Author

Mario Torso, Giorgio Fumagalli, Gerard R. Ridgway, Valeria Elisa Contarino, Ian Hardingham, Elio Scarpini, Daniela Galimberti, Steven A. Chance, and Andrea Arighi

Subjects
Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
Abstract

Abstract Objective To investigate cortical microstructural measures from diffusion MRI as “neurodegeneration” markers that could improve prognostic accuracy in mild cognitive impairment (MCI). Methods The prognostic power of Amyloid/Tau/Neurodegeneration (ATN) biomarkers to predict progression from MCI to AD or non‐AD dementia was investigated. Ninety patients underwent clinical evaluation (follow‐up interval 32 ± 18 months), lumbar puncture, and MRI. Participants were grouped by clinical stage and cerebrospinal fluid Amyloid and Tau status. T1‐structural and diffusion MRI scans were analyzed to calculate diffusion metrics related to cortical columnar structure (AngleR, ParlPD, PerpPD+), cortical mean diffusivity, and fractional anisotropy. Statistical tests were corrected for multiple comparisons. Prognostic power was assessed using receiver operating characteristic (ROC) analysis and related indices. Results A progressive increase of whole‐brain cortical diffusion values was observed along the AD continuum, with all A+ groups showing significantly higher AngleR than A−T−. Investigating clinical progression to dementia, the AT biomarkers together showed good positive predictive value (with 90.91% of MCI A+T+ converting to dementia) but poor negative predictive value (with 40% of MCI A−T− progressing to a mix of AD and non‐AD dementias). Adding whole‐brain AngleR as an N marker, produced good differentiation between stable and converting MCI A−T− patients (0.8 area under ROC curve) and substantially improved negative predictive value (+21.25%). Interpretation Results support the clinical utility of cortical microstructure to aid prognosis, especially in A−T− patients. Further work will investigate other complexities of the real‐world clinical setting, including A−T+ groups. Diffusion MRI measures of neurodegeneration may complement fluid AT markers to support clinical decision‐making.

Published
2024
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2. Extending the phenotypic spectrum assessed by the CDR plus NACC FTLD in genetic frontotemporal dementia

Author

Kiran Samra, Georgia Peakman, Amy M. MacDougall, Arabella Bouzigues, Caroline V. Greaves, Rhian S. Convery, John C. vanSwieten, Lize Jiskoot, Harro Seelaar, Fermin Moreno, Raquel Sanchez‐Valle, Robert Laforce, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James B. Rowe, Barbara Borroni, Elizabeth Finger, Matthis Synofzik, Daniela Galimberti, Rik Vandenberghe, Alexandre deMendonça, Chris R. Butler, Alexander Gerhard, Simon Ducharme, Isabelle Le Ber, Pietro Tiraboschi, Isabel Santana, Florence Pasquier, Johannes Levin, Markus Otto, Sandro Sorbi, Jonathan D. Rohrer, Lucy L. Russell, and Genetic FTD Initiative (GENFI)

Subjects
C9orf72, frontotemporal dementia, genetics, progranulin, tau, Neurology. Diseases of the nervous system, RC346-429, Geriatrics, RC952-954.6
Abstract

Abstract INTRODUCTION We aimed to expand the range of the frontotemporal dementia (FTD) phenotypes assessed by the Clinical Dementia Rating Dementia Staging Instrument plus National Alzheimer's Coordinating Center Behavior and Language Domains (CDR plus NACC FTLD). METHODS Neuropsychiatric and motor domains were added to the standard CDR plus NACC FTLD generating a new CDR plus NACC FTLD‐NM scale. This was assessed in 522 mutation carriers and 310 mutation‐negative controls from the Genetic Frontotemporal dementia Initiative (GENFI). RESULTS The new scale led to higher global severity scores than the CDR plus NACC FTLD: 1.4% of participants were now considered prodromal rather than asymptomatic, while 1.3% were now considered symptomatic rather than asymptomatic or prodromal. No participants with a clinical diagnosis of an FTD spectrum disorder were classified as asymptomatic using the new scales. DISCUSSION Adding new domains to the CDR plus NACC FTLD leads to a scale that encompasses the wider phenotypic spectrum of FTD with further work needed to validate its use more widely. Highlights The new Clinical Dementia Rating Dementia Staging Instrument plus National Alzheimer's Coordinating Center Behavior and Language Domains neuropsychiatric and motor (CDR plus NACC FTLD‐NM) rating scale was significantly positively correlated with the original CDR plus NACC FTLD and negatively correlated with the FTD Rating Scale (FRS). No participants with a clinical diagnosis in the frontotemporal dementia spectrum were classified as asymptomatic with the new CDR plus NACC FTLD‐NM rating scale. Individuals had higher global severity scores with the addition of the neuropsychiatric and motor domains. A receiver operating characteristic analysis of symptomatic diagnosis showed nominally higher areas under the curve for the new scales.

Published
2024
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3. CSF glial markers are elevated in a subset of patients with genetic frontotemporal dementia

Author

Ione O. C. Woollacott, Imogen J. Swift, Aitana Sogorb‐Esteve, Carolin Heller, Kathryn Knowles, Arabella Bouzigues, Lucy L. Russell, Georgia Peakman, Caroline V. Greaves, Rhian Convery, Amanda Heslegrave, James B. Rowe, Barbara Borroni, Daniela Galimberti, Pietro Tiraboschi, Mario Masellis, Maria Carmela Tartaglia, Elizabeth Finger, John C. vanSwieten, Harro Seelaar, Lize Jiskoot, Sandro Sorbi, Chris R. Butler, Caroline Graff, Alexander Gerhard, Robert Laforce, Raquel Sanchez‐Valle, Alexandre deMendonça, Fermin Moreno, Matthis Synofzik, Rik Vandenberghe, Simon Ducharme, Isabelle Le Ber, Johannes Levin, Markus Otto, Florence Pasquier, Isabel Santana, Henrik Zetterberg, Jonathan D. Rohrer, and the Genetic FTD Initiative, GENFI

Subjects
Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
Abstract

Abstract Background Neuroinflammation has been shown to be an important pathophysiological disease mechanism in frontotemporal dementia (FTD). This includes activation of microglia, a process that can be measured in life through assaying different glia‐derived biomarkers in cerebrospinal fluid. However, only a few studies so far have taken place in FTD, and even fewer focusing on the genetic forms of FTD. Methods We investigated the cerebrospinal fluid concentrations of TREM2, YKL‐40 and chitotriosidase using immunoassays in 183 participants from the Genetic FTD Initiative (GENFI) study: 49 C9orf72 (36 presymptomatic, 13 symptomatic), 49 GRN (37 presymptomatic, 12 symptomatic) and 23 MAPT (16 presymptomatic, 7 symptomatic) mutation carriers and 62 mutation‐negative controls. Concentrations were compared between groups using a linear regression model adjusting for age and sex, with 95% bias‐corrected bootstrapped confidence intervals. Concentrations in each group were correlated with the Mini‐Mental State Examination (MMSE) score using non‐parametric partial correlations adjusting for age. Age‐adjusted z‐scores were also created for the concentration of markers in each participant, investigating how many had a value above the 95th percentile of controls. Results Only chitotriosidase in symptomatic GRN mutation carriers had a concentration significantly higher than controls. No group had higher TREM2 or YKL‐40 concentrations than controls after adjusting for age and sex. There was a significant negative correlation of chitotriosidase concentration with MMSE in presymptomatic GRN mutation carriers. In the symptomatic groups, for TREM2 31% of C9orf72, 25% of GRN, and 14% of MAPT mutation carriers had a concentration above the 95th percentile of controls. For YKL‐40 this was 8% C9orf72, 8% GRN and 0% MAPT mutation carriers, whilst for chitotriosidase it was 23% C9orf72, 50% GRN, and 29% MAPT mutation carriers. Conclusions Although chitotriosidase concentrations in GRN mutation carriers were the only significantly raised glia‐derived biomarker as a group, a subset of mutation carriers in all three groups, particularly for chitotriosidase and TREM2, had elevated concentrations. Further work is required to understand the variability in concentrations and the extent of neuroinflammation across the genetic forms of FTD. However, the current findings suggest limited utility of these measures in forthcoming trials.

Published
2022
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4. The CBI‐R detects early behavioural impairment in genetic frontotemporal dementia

Author

Annabel Nelson, Lucy L. Russell, Georgia Peakman, Rhian S. Convery, Arabella Bouzigues, Caroline V. Greaves, Martina Bocchetta, David M. Cash, John C. vanSwieten, Lize Jiskoot, Fermin Moreno, Raquel Sanchez‐Valle, Robert Laforce, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James B. Rowe, Barbara Borroni, Elizabeth Finger, Matthis Synofzik, Daniela Galimberti, Rik Vandenberghe, Alexandre deMendonça, Chris R. Butler, Alexander Gerhard, Simon Ducharme, Isabelle Le Ber, Isabel Santana, Florence Pasquier, Johannes Levin, Markus Otto, Sandro Sorbi, Jonathan D. Rohrer, and Genetic FTD Initiative (GENFI)

Subjects
Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
Abstract

Abstract Introduction Behavioural dysfunction is a key feature of genetic frontotemporal dementia (FTD) but validated clinical scales measuring behaviour are lacking at present. Methods We assessed behaviour using the revised version of the Cambridge Behavioural Inventory (CBI‐R) in 733 participants from the Genetic FTD Initiative study: 466 mutation carriers (195 C9orf72, 76 MAPT, 195 GRN) and 267 non‐mutation carriers (controls). All mutation carriers were stratified according to their global CDR plus NACC FTLD score into three groups: asymptomatic (CDR = 0), prodromal (CDR = 0.5) and symptomatic (CDR = 1+). Mixed‐effects models adjusted for age, education, sex and family clustering were used to compare between the groups. Neuroanatomical correlates of the individual domains were assessed within each genetic group. Results CBI‐R total scores were significantly higher in all CDR 1+ mutation carrier groups compared with controls [C9orf72 mean 70.5 (standard deviation 27.8), GRN 56.2 (33.5), MAPT 62.1 (36.9)] as well as their respective CDR 0.5 groups [C9orf72 13.5 (14.4), GRN 13.3 (13.5), MAPT 9.4 (10.4)] and CDR 0 groups [C9orf72 6.0 (7.9), GRN 3.6 (6.0), MAPT 8.5 (13.3)]. The C9orf72 and GRN 0.5 groups scored significantly higher than the controls. The greatest impairment was seen in the Motivation domain for the C9orf72 and GRN symptomatic groups, whilst in the symptomatic MAPTgroup, the highest‐scoring domains were Stereotypic and Motor Behaviours and Memory and Orientation. Neural correlates of each CBI‐R domain largely overlapped across the different mutation carrier groups. Conclusions The CBI‐R detects early behavioural change in genetic FTD, suggesting that it could be a useful measure within future clinical trials.

Published
2022
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5. Two‐point‐NGS analysis of cancer genes in cell‐free DNA of metastatic cancer patients

Author

Maria Palmieri, Margherita Baldassarri, Francesca Fava, Alessandra Fabbiani, Elisa Gelli, Rossella Tita, Pamela Torre, Roberto Petrioli, Theodora Hadijstilianou, Daniela Galimberti, Elisa Cinotti, Carmelo Bengala, Marco Mandalà, Pietro Piu, Salvatora Tindara Miano, Ignazio Martellucci, Agnese Vannini, Anna Maria Pinto, Maria Antonietta Mencarelli, Stefania Marsili, Alessandra Renieri, and Elisa Frullanti

Subjects
cell‐free DNA, liquid biopsy, next‐generation sequencing, solid tumors, targeted‐therapy, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract

Abstract Background Although the efficacy of molecularly target agents in vitro, their use in routine setting is limited mainly to the use of anti‐HER2 and antiEGFR agents in vivo. Moreover, core biopsy of a single cancer site may not be representative of the whole expanding clones and cancer molecular profile at relapse may differ with respect to the primary tumor. Methods We assessed the status of a large panel of cancer driver genes by cell‐free DNA (cfDNA) analysis in a cohort of 68 patients with 13 different solid tumors at disease progression. Whenever possible, a second cfDNA analysis was performed after a mean of 2.5 months, in order to confirm the identified clone(s) and to check the correlation with clinical evolution. Results The approach was able to identify clones plausibly involved in the disease progression mechanism in about 65% of cases. A mean of 1.4 mutated genes (range 1‐3) for each tumor was found. Point mutations in TP53, PIK3CA, and KRAS and copy number variations in FGFR3 were the gene alterations more commonly observed, with a rate of 48%, 20%, 16%, and 20%, respectively. Two‐points‐Next‐Generation Sequencing (NGS) analysis demonstrated statistically significant correlation between allele frequency variation and clinical outcome (P = .026). Conclusions Irrespective of the primary tumor mutational burden, few mutated genes are present at disease progression. Clinical outcome is consistent with variation of allele frequency of specific clones indicating that cfDNA two‐point‐NGS analysis of cancer driver genes could be an efficacy tool for precision oncology.

Published
2020
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6. Impairment of episodic memory in genetic frontotemporal dementia: A GENFI study

Author

Jackie M. Poos, Lucy L. Russell, Georgia Peakman, Martina Bocchetta, Caroline V. Greaves, Lize C. Jiskoot, Emma L. van derEnde, Harro Seelaar, Janne M. Papma, Esther vanden Berg, Yolande A.L. Pijnenburg, Barbara Borroni, Raquel Sanchez‐Valle, Fermin Moreno, Robert Laforce, Caroline Graff, Matthias Synofzik, Daniela Galimberti, James B. Rowe, Mario Masellis, Carmela Tartaglia, Elizabeth Finger, Rik Vandenberghe, Alexandre deMedonça, Fabrizio Tagliavini, Chris R. Butler, Isabel Santana, Isabelle Le Ber, Alex Gerhard, Simon Ducharme, Johannes Levin, Adrian Danek, Markus Otto, Sandro Sorbi, Florence Pasquier, John C. vanSwieten, Jonathan D. Rohrer, and the Genetic FTD Initiative, GENFI

Subjects
cognition, episodic memory, executive function, frontal lobe, frontotemporal dementia, genetic disorders, Neurology. Diseases of the nervous system, RC346-429, Geriatrics, RC952-954.6
Abstract

Abstract Introduction We aimed to assess episodic memory in genetic frontotemporal dementia (FTD) with the Free and Cued Selective Reminding Test (FCSRT). Methods The FCSRT was administered in 417 presymptomatic and symptomatic mutation carriers (181 chromosome 9 open reading frame 72 [C9orf72], 163 progranulin [GRN], and 73 microtubule‐associated protein tau [MAPT]) and 290 controls. Group differences and correlations with other neuropsychological tests were examined. We performed voxel‐based morphometry to investigate the underlying neural substrates of the FCSRT. Results All symptomatic mutation carrier groups and presymptomatic MAPT mutation carriers performed significantly worse on all FCSRT scores compared to controls. In the presymptomatic C9orf72 group, deficits were found on all scores except for the delayed total recall task, while no deficits were found in presymptomatic GRN mutation carriers. Performance on the FCSRT correlated with executive function, particularly in C9orf72 mutation carriers, but also with memory and naming tasks in the MAPT group. FCSRT performance also correlated with gray matter volumes of frontal, temporal, and subcortical regions in C9orf72 and GRN, but mainly temporal areas in MAPT mutation carriers. Discussion The FCSRT detects presymptomatic deficits in C9orf72‐ and MAPT‐associated FTD and provides important insight into the underlying cause of memory impairment in different forms of FTD.

Published
2021
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7. Presymptomatic white matter integrity loss in familial frontotemporal dementia in the GENFI cohort: A cross‐sectional diffusion tensor imaging study

Author

Lize C. Jiskoot, Martina Bocchetta, Jennifer M. Nicholas, David M. Cash, David Thomas, Marc Modat, Sebastien Ourselin, Serge A.R.B. Rombouts, Elise G.P. Dopper, Lieke H. Meeter, Jessica L. Panman, Rick vanMinkelen, Emma L. van derEnde, Laura Donker Kaat, Yolande A.L. Pijnenburg, Barbara Borroni, Daniela Galimberti, Mario Masellis, Maria Carmela Tartaglia, James Rowe, Caroline Graff, Fabrizio Tagliavini, Giovanni B. Frisoni, Robert Laforce Jr, Elizabeth Finger, Alexandre deMendonça, Sandro Sorbi, on behalf of the Genetic Frontotemporal dementia Initiative (GENFI), Janne M. Papma, John C. vanSwieten, and Jonathan D. Rohrer

Subjects
Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
Abstract

Abstract Objective We aimed to investigate mutation‐specific white matter (WM) integrity changes in presymptomatic and symptomatic mutation carriers of the C9orf72, MAPT, and GRN mutations by use of diffusion‐weighted imaging within the Genetic Frontotemporal dementia Initiative (GENFI) study. Methods One hundred and forty mutation carriers (54 C9orf72, 30 MAPT, 56 GRN), 104 presymptomatic and 36 symptomatic, and 115 noncarriers underwent 3T diffusion tensor imaging. Linear mixed effects models were used to examine the association between diffusion parameters and years from estimated symptom onset in C9orf72, MAPT, and GRN mutation carriers versus noncarriers. Post hoc analyses were performed on presymptomatic mutation carriers only, as well as left–right asymmetry analyses on GRN mutation carriers versus noncarriers. Results Diffusion changes in C9orf72 mutation carriers are present significantly earlier than both MAPT and GRN mutation carriers – characteristically in the posterior thalamic radiation and more posteriorly located tracts (e.g., splenium of the corpus callosum, posterior corona radiata), as early as 30 years before estimated symptom onset. MAPT mutation carriers showed early involvement of the uncinate fasciculus and cingulum, sparing the internal capsule, whereas involvement of the anterior and posterior internal capsule was found in GRN. Restricting analyses to presymptomatic mutation carriers only, similar – albeit less extensive – patterns were found: posteriorly located WM tracts (e.g., posterior thalamic radiation, splenium of the corpus callosum, posterior corona radiata) in presymptomatic C9orf72, the uncinate fasciculus in presymptomatic MAPT, and the internal capsule (anterior and posterior limbs) in presymptomatic GRN mutation carriers. In GRN, most tracts showed significant left–right differences in one or more diffusion parameter, with the most consistent results being found in the UF, EC, RPIC, and ALIC. Interpretation This study demonstrates the presence of early and widespread WM integrity loss in presymptomatic FTD, and suggests a clear genotypic “fingerprint.” Our findings corroborate the notion of FTD as a network‐based disease, where changes in connectivity are some of the earliest detectable features, and identify diffusion tensor imaging as a potential neuroimaging biomarker for disease‐tracking and ‐staging in presymptomatic to early‐stage familial FTD.

Published
2018
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8. Consensus guidelines for lumbar puncture in patients with neurological diseases

Author

Sebastiaan Engelborghs, Ellis Niemantsverdriet, Hanne Struyfs, Kaj Blennow, Raf Brouns, Manuel Comabella, Irena Dujmovic, Wiesje van derFlier, Lutz Frölich, Daniela Galimberti, Sharmilee Gnanapavan, Bernhard Hemmer, Erik Hoff, Jakub Hort, Ellen Iacobaeus, Martin Ingelsson, Frank Jan de Jong, Michael Jonsson, Michael Khalil, Jens Kuhle, Alberto Lleó, Alexandre deMendonça, José Luis Molinuevo, Guy Nagels, Claire Paquet, Lucilla Parnetti, Gerwin Roks, Pedro Rosa‐Neto, Philip Scheltens, Constance Skårsgard, Erik Stomrud, Hayrettin Tumani, Pieter Jelle Visser, Anders Wallin, Bengt Winblad, Henrik Zetterberg, Flora Duits, and Charlotte E. Teunissen

Subjects
Lumbar puncture, Cerebrospinal fluid, Post‐LP complications, Headache, Back pain, Consensus guidelines, Neurology. Diseases of the nervous system, RC346-429, Geriatrics, RC952-954.6
Abstract

Abstract Introduction Cerebrospinal fluid collection by lumbar puncture (LP) is performed in the diagnostic workup of several neurological brain diseases. Reluctance to perform the procedure is among others due to a lack of standards and guidelines to minimize the risk of complications, such as post‐LP headache or back pain. Methods We provide consensus guidelines for the LP procedure to minimize the risk of complications. The recommendations are based on (1) data from a large multicenter LP feasibility study (evidence level II‐2), (2) systematic literature review on LP needle characteristics and post‐LP complications (evidence level II‐2), (3) discussion of best practice within the Joint Programme Neurodegenerative Disease Research Biomarkers for Alzheimer's disease and Parkinson's Disease and Biomarkers for Multiple Sclerosis consortia (evidence level III). Results Our consensus guidelines address contraindications, as well as patient‐related and procedure‐related risk factors that can influence the development of post‐LP complications. Discussion When an LP is performed correctly, the procedure is well tolerated and accepted with a low complication rate.

Published
2017
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9. The Impact of Osteopontin Gene Variations on Multiple Sclerosis Development and Progression

Author

Cristoforo Comi, Giuseppe Cappellano, Annalisa Chiocchetti, Elisabetta Orilieri, Sara Buttini, Laura Ghezzi, Daniela Galimberti, Franca Guerini, Nadia Barizzone, Franco Perla, Maurizio Leone, Sandra D’Alfonso, Domenico Caputo, Elio Scarpini, Roberto Cantello, and Umberto Dianzani

Subjects
Immunologic diseases. Allergy, RC581-607
Abstract

Osteopontin is a proinflammatory molecule, modulating TH1 and TH17 responses. Several reports suggest its involvement in multiple sclerosis (MS) pathogenesis. We previously reported that OPN gene variations at the 3′ end are a predisposing factor for MS development and evolution. In this paper, we extended our analysis to a gene variation at the 5′ end on the -156G>GG single nucleotide polymorphism (SNP) and replicated our previous findings at the 3′ end on the +1239A>C SNP. We found that only +1239A>C SNP displayed a statistically significant association with MS development, but both +1239A>C and -156G>GG had an influence on MS progression, since patients homozygous for both +1239A and −156GG alleles displayed slower progression of disability and slower switch to secondary progression than those carrying +1239C and/or −156G and those homozygous for +1239A only. Moreover, patients homozygous for +1239A also displayed a significantly lower relapse rate than those carrying +1239C, which is in line with the established role of OPN in MS relapses.

Published
2012
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10. Shorter disease duration in females with sporadic frontotemporal dementia

Author

Sterre C.M. de Boer, Lina Riedl, Sven J Van der lee, Markus Otto, Sarah Anderl‐Straub, Ramon Landin‐Romero, Federica Sorrentino, Jay L.P. Fieldhouse, Lianne M. Reus, Glenda M Halliday, Daniela Galimberti, Janine Diehl‐Schmid, Simon Ducharme, Olivier Piguet, and Yolande A.L. Pijnenburg

Subjects
Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, Epidemiology, Health Policy, Neurology (clinical), Geriatrics and Gerontology
Published
2022

12. Protective association of HLA‐DRB1 *04 subtypes in neurodegenerative diseases implicates acetylated tau PHF6 sequences

Author

Yann Le Guen, Guo Luo, Aditya Ambati, Vincent Damotte, Iris E Jansen, Eric Yu, Aude Nicolas, Itziar de Rojas, Thiago Peixoto Leal, Akinori Miyashita, Céline Bellenguez, Michelle Mulan Lian, Kayenat Parveen, Takashi Morizono, Hyeonseul Park, Benjamin Grenier‐Boley, Tatsuhiko Naito, Fahri Küçükali, Seth D. Talyansky, Selina Marie Yogeshwar, Vicente Sempere, Wataru Satake, Victoria Álvarez‐Martínez, Beatrice Arosio, Michael E Belloy, Luisa Benussi, Anne Boland, Barbara Borroni, María J. Bullido, Paolo Caffarra, Jordi Clarimon, Antonio Daniele, Daniel Darling, Stéphanie Debette, Jean‐François Deleuze, Martin Dichgans, Carole Dufouil, Emmanuel During, Emrah Duzel, Daniela Galimberti, Guillermo García‐Ribas, Jose María García‐Alberca, Pablo García‐González, Vilmantas Giedraitis, Oliver Goldhardt, Caroline Graff, Edna Grunblatt, Olivier Hanon, Lucrezia Hausner, Stefanie Heilmann‐Heimbach, Henne Holstege, Jakub Hort, Yoo Jin Jung, Deckert Jurgen, Silke Kern, Teemu Kuulasmaa, Kun Ho Lee, Ling Ling, Carlo Masullo, Patrizia Mecocci, Shima Mehrabian, Alexandre de Mendonça, Mercè Boada, Pablo Mir, Susanne Moebus, Fermin Moreno, Benedetta Nacmias, Gaël Nicolas, Shumpei Niida, Børge G. Nordestgaard, Goran Papenberg, Janne M. Papma, Lucilla Parnetti, Florence Pasquier, Pau Pastor, Oliver Peters, Yolande A.L. Pijnenburg, Gerard Piñol‐Ripoll, Julius Popp, Laura Molina, Raquel Puerta, Jordi Pérez‐Tur, Innocenzo Rainero, Luis Miguel Real, Steffi G. Riedel‐Heller, Eloy Rodríguez Rodríguez, José Luís Royo, Dan Rujescu, Nikolaos Scarmeas, Philip Scheltens, Norbert Scherbaum, Anja Schneider, Davide Seripa, Ingmar Skoog, Vincenzo Solfrizzi, Gianfranco Spalletta, Alessio Squassina, John C van Swieten, Raquel Sanchez‐Valle, Eng‐King Tan, Thomas Tegos, Charlotte E. Teunissen, Jesper Qvist Thomassen, Lucio Tremolizzo, Martin Vyhnalek, Frans R.J. Verhey, Margda Waern, Jens Wiltfang, Jing Zhang, Henrik Zetterberg, Kaj Blennow, Julie Williams, Philippe Amouyel, Frank Jessen, Patrick G Kehoe, Ole Andreassen, Cornelia M van Duijn, Magda Tsolaki, Pascual Sanchez‐Juan, Ruth Frikke‐Schmidt, Kristel Sleegers, Tatsushi Toda, Anna Zettergren, Martin Ingelsson, Yukinori Okada, Giacomina Rossi, Mikko Hiltunen, Jungsoo Gim, Kouichi Ozaki, Rebecca Sims, Jia Nee Foo, Wiesje M. van der Flier, Takeshi Ikeuchi, Alfredo Ramirez, Ignacio Mata, Agustin Ruiz, Ziv Gan‐Or, Jean‐Charles Lambert, Michael D Greicius, and Emmanuel Mignot

Subjects
Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, Epidemiology, Health Policy, Neurology (clinical), Geriatrics and Gerontology
Published
2022

13. Apathy in presymptomatic genetic frontotemporal dementia predicts cognitive decline and is driven by structural brain changes

Author

Matthis Synofzik, Alexandre de Mendonça, Giovanni B. Frisoni, Maura Malpetti, Fermin Moreno, Christopher C Butler, Roberta Ghidoni, Daniela Galimberti, Rik Vandenberghe, Elizabeth Finger, Isabel Santana, Alexander Gerhard, Georgia Peakman, Emily Todd, Carolin Heller, Jonathan D. Rohrer, Katrina M. Moore, Kamen A. Tsvetanov, Rhian S Convery, P. Simon Jones, Johannes Levin, James B. Rowe, Caroline Graff, Markus Otto, Barbara Borroni, Raquel Sánchez-Valle, Sandro Sorbi, Fabrizio Tagliavini, John C. van Swieten, Maria Carmela Tartaglia, Rogier A. Kievit, Simon Ducharme, Robert Laforce, Mario Masellis, Timothy Rittman, Adrian Danek, David M. Cash, Martina Bocchetta, Apollo - University of Cambridge Repository, Repositório da Universidade de Lisboa, Neurology, Malpetti, Maura [0000-0001-8923-9656], Jones, Simon [0000-0001-9695-0702], Tsvetanov, Kamen A. [0000-0002-3178-6363], Rittman, Timothy [0000-0003-1063-6937], and Rowe, James [0000-0001-7216-8679]

Subjects
Male, longitudinal design, SYMPTOMS, pathology [Cognitive Dysfunction], Epidemiology, Stress-related disorders Donders Center for Medical Neuroscience [Radboudumc 13], Medizin, apathy, DISEASE, 0302 clinical medicine, pathology [Brain], pathology [Gray Matter], C9orf72, presymptomatic carriers, cognitive decline, genetic frontotemporal dementia, MRI, Apathy, Gray Matter, Cognitive decline, genetics [Frontotemporal Dementia], pathology [Atrophy], 0303 health sciences, Health Policy, Brain, Cognition, IMPAIRMENT, Middle Aged, DEPRESSION, Magnetic Resonance Imaging, Psychiatry and Mental health, Frontotemporal Dementia, Female, IMPULSIVITY, medicine.symptom, Life Sciences & Biomedicine, Clinical psychology, Frontotemporal dementia, Clinical Neurology, FEATURED ARTICLE, Prodromal Symptoms, PHENOTYPES, genetics [Mutation], Impulsivity, 03 medical and health sciences, Cellular and Molecular Neuroscience, All institutes and research themes of the Radboud University Medical Center, Atrophy, SDG 3 - Good Health and Well-being, Developmental Neuroscience, mental disorders, medicine, Humans, Dementia, Cognitive Dysfunction, ddc:610, BEHAVIORAL-VARIANT, 030304 developmental biology, Science & Technology, EXECUTIVE FUNCTION, business.industry, DIGIT SYMBOL, 1103 Clinical Sciences, medicine.disease, DYSFUNCTION, Geriatrics, Mutation, FEATURED ARTICLES, Neurosciences & Neurology, Neurology (clinical), Geriatrics and Gerontology, 1109 Neurosciences, business, 030217 neurology & neurosurgery
Abstract

© 2020 The Authors. Alzheimer's & Dementia published by Wiley Periodicals LLC on behalf of Alzheimer's Association. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited., Introduction: Apathy adversely affects prognosis and survival of patients with frontotemporal dementia (FTD). We test whether apathy develops in presymptomatic genetic FTD, and is associated with cognitive decline and brain atrophy. Methods: Presymptomatic carriers of MAPT, GRN or C9orf72 mutations (N = 304), and relatives without mutations (N = 296) underwent clinical assessments and MRI at baseline, and annually for 2 years. Longitudinal changes in apathy, cognition, gray matter volumes, and their relationships were analyzed with latent growth curve modeling. Results: Apathy severity increased over time in presymptomatic carriers, but not in non-carriers. In presymptomatic carriers, baseline apathy predicted cognitive decline over two years, but not vice versa. Apathy progression was associated with baseline low gray matter volume in frontal and cingulate regions. Discussion: Apathy is an early marker of FTD-related changes and predicts a subsequent subclinical deterioration of cognition before dementia onset. Apathy may be a modifiable factor in those at risk of FTD., This work is co‐funded by the UK Medical Research Council (MR/M023664/1), the Italian Ministry of Health and the Canadian Institutes of Health Research as part of a Centres of Excellence in Neurodegeneration grant, a Canadian Institutes of Health Research operating grant and the Bluefield Project, as well as a JPND grant “GENFI‐prox” (by DLR/BMBF to MS, joined with JDR, JvS, MO, BB and CG). MM is supported by the Cambridge Trust & Sidney Sussex College Scholarship. PSJ is supported by the Cambridge Centre for Parkinson Plus. KAT is supported by the British Academy Postdoctoral Fellowship (KAT: PF160048) and Guarantors of Brain (KAT: 101149). TR is supported by the Cambridge Centre for Parkinson Plus and Cambridge Biomedical Resource Centre. RAK is supported by Medical Research Council (RAK: SUAG/047/G101400). JBR reports grants from the NIHR Cambridge Biomedical research centre, Wellcome Trust (103838), and Medical Research Council (SUAG051/G101400; MR/T033371/1); personal fees from Asceneuron, WAVE, Astex, and Biogen; and grants from Janssen, AZ Medimmune, and Eli Lilly, outside the submitted work. JDR is supported by an MRC Clinician Scientist Fellowship (MR/M008525/1) and has received funding from the NIHR Rare Disease Translational Research Collaboration (BRC149/NS/MH). MB is supported by a Fellowship award from the Alzheimer's Society, UK (AS‐JF‐19a‐004‐517), and by the UK Dementia Research Institute which receives its funding from DRI Ltd, funded by the UK Medical Research Council, Alzheimer's Society, and Alzheimer's Research UK.

Published
2020

14. Two‐point‐NGS analysis of cancer genes in cell‐free DNA of metastatic cancer patients

Author

Pietro Piu, Elisa Gelli, Margherita Baldassarri, Elisa Frullanti, Marco Mandalà, Elisa Cinotti, Alessandra Fabbiani, Maria Palmieri, Francesca Fava, Anna Maria Pinto, Roberto Petrioli, Pamela Torre, Maria Antonietta Mencarelli, Alessandra Renieri, Carmelo Bengala, Agnese Vannini, Stefania Marsili, Salvatora Tindara Miano, Daniela Galimberti, Theodora Hadijstilianou, Ignazio Martellucci, and Rossella Tita

Subjects
Male, 0301 basic medicine, Oncology, Cancer Research, medicine.medical_treatment, DNA Mutational Analysis, targeted-therapy, next‐generation sequencing, medicine.disease_cause, Circulating Tumor DNA, Targeted therapy, 0302 clinical medicine, Neoplasms, Prospective Studies, Copy-number variation, Precision Medicine, Child, cell‐free DNA, Original Research, Aged, 80 and over, targeted‐therapy, High-Throughput Nucleotide Sequencing, Middle Aged, solid tumors, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, Primary tumor, Cell-free fetal DNA, Child, Preschool, 030220 oncology & carcinogenesis, Disease Progression, Female, KRAS, Adult, medicine.medical_specialty, Adolescent, DNA Copy Number Variations, cell-free DNA, liquid biopsy, next-generation sequencing, lcsh:RC254-282, Clonal Evolution, Young Adult, 03 medical and health sciences, Internal medicine, Biomarkers, Tumor, medicine, Humans, Point Mutation, Radiology, Nuclear Medicine and imaging, Liquid biopsy, Allele frequency, Aged, business.industry, Infant, Clinical Cancer Research, Cancer, medicine.disease, 030104 developmental biology, Mutation, Feasibility Studies, business, Follow-Up Studies
Abstract

Background Although the efficacy of molecularly target agents in vitro, their use in routine setting is limited mainly to the use of anti‐HER2 and antiEGFR agents in vivo. Moreover, core biopsy of a single cancer site may not be representative of the whole expanding clones and cancer molecular profile at relapse may differ with respect to the primary tumor. Methods We assessed the status of a large panel of cancer driver genes by cell‐free DNA (cfDNA) analysis in a cohort of 68 patients with 13 different solid tumors at disease progression. Whenever possible, a second cfDNA analysis was performed after a mean of 2.5 months, in order to confirm the identified clone(s) and to check the correlation with clinical evolution. Results The approach was able to identify clones plausibly involved in the disease progression mechanism in about 65% of cases. A mean of 1.4 mutated genes (range 1‐3) for each tumor was found. Point mutations in TP53, PIK3CA, and KRAS and copy number variations in FGFR3 were the gene alterations more commonly observed, with a rate of 48%, 20%, 16%, and 20%, respectively. Two‐points‐Next‐Generation Sequencing (NGS) analysis demonstrated statistically significant correlation between allele frequency variation and clinical outcome (P = .026). Conclusions Irrespective of the primary tumor mutational burden, few mutated genes are present at disease progression. Clinical outcome is consistent with variation of allele frequency of specific clones indicating that cfDNA two‐point‐NGS analysis of cancer driver genes could be an efficacy tool for precision oncology., Core biopsy of a single cancer site may not be representative of the whole expanding clones and cancer molecular profile at relapse may differ with respect to the primary tumor. In this study, we performed a first and whenever possible, a second NGS liquid biopsy analysis after a mean of 2.5 months in advanced cancer patients. The approach was able to identify clones plausibly involved in the disease progression mechanism in about 65% of cases. Clinical outcome is consistent with variation of allele frequency of specific clones indicating that cfDNA two point‐NGS analysis of cancer driver genes could be an efficacy tool for precision oncology.

Published
2020

15. Differences in sex distribution between genetic and sporadic FTD

Author

Sterre C.M. de Boer, Sven J Van Der Lee, Janine Diehl‐Schmid, Lina Riedl, Olivier Piguet, Glenda M Halliday, Daniela Galimberti, Federica Sorrentino, Simon Ducharme, Jay L.P. Fieldhouse, Lianne M. Reus, and Yolande A.L. Pijnenburg

Subjects
Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, Epidemiology, Health Policy, Neurology (clinical), Geriatrics and Gerontology
Published
2021

16. A data‐driven disease progression model of fluid biomarkers in genetic FTD

Author

Emma van der Ende, Esther E. Bron, Jackie M. Poos, Lize C. Jiskoot, Jessica L. Panman, Janne M. Papma, Carlo Wilke, Matthis Synofzik, Carolin Heller, Imogen J. Swift, Aitana Sogorb Esteve, Arabella Bouzigues, Barbara Borroni, Raquel Sanchez‐Valle, Fermin Moreno, Caroline Graff, Robert Laforce, Daniela Galimberti, Mario Masellis, Maria Carmela Tartaglia, Elizabeth Finger, Rik Vandenberghe, James B. Rowe, Alexandre Mendonca, Fabrizio Tagliavini, Isabel Santana, Simon Ducharme, Christopher Butler, Alexander Gerhard, Johannes Levin, Adrian Danek, Markus Otto, Yolande A.L. Pijnenburg, Giovanni B. Frisoni, Sandro Sorbi, Roberta Ghidoni, Wiro J. Niessen, Jonathan D. Rohrer, Stefan Klein, John C van Swieten, Vikram Venkatraghavan, and Harro Seelaar

Subjects
Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, Epidemiology, Health Policy, Neurology (clinical), Geriatrics and Gerontology
Published
2021

17. A cognitive composite for genetic frontotemporal dementia: GENFI‐cog

Author

Jackie M. Poos, Jennifer M Nicholas, Katrina M Moore, Lucy L Russell, Georgia Peakman, Lize C. Jiskoot, Esther van den Berg, Janne M. Papma, Harro Seelaar, Yolande A.L. Pijnenburg, Fermin Moreno, Raquel Sanchez‐Valle, Barbara Borroni, Robert Laforce, Mario Masellis, Maria Carmela Tartaglia, Caroline Graff, Daniela Galimberti, James B Rowe, Elizabeth Finger, Matthis Synofzik, Rik Vandenberghe, Alexandre Mendonca, Fabrizio Tagliavini, Isabel Santana, Simon Ducharme, Christopher Butler, Alexander Gerhard, Johannes Levin, Adrian Danek, Markus Otto, John C van Swieten, and Jonathan D Rohrer

Subjects
Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, Epidemiology, Health Policy, Neurology (clinical), Geriatrics and Gerontology
Published
2021

18. Dissecting frontotemporal dementia: Correlations between neuropsychiatric symptoms and neuropathology

Author

Harro Seelaar, Anke A. Dijkstra, Annemieke J.M. Rozemuller, Daniela Galimberti, Yolande A.L. Pijnenburg, Priya Gami-Patel, Netherlands Brain Bank, John C. van Swieten, Annemiek Dols, Marta Scarioni, Elio Scarpini, Jeroen J.M. Hoozemans, and Yannick Timar

Subjects
Pathology, medicine.medical_specialty, Epidemiology, business.industry, Health Policy, Neuropathology, medicine.disease, Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, Medicine, Neurology (clinical), Geriatrics and Gerontology, business, Frontotemporal dementia
Published
2020

19. Phenotypic heterogeneity of the rare R377W PSEN1 mutation: Late‐onset presentation with mixed Alzheimer’s and frontotemporal dementia features

Author

Elio Scarpini, Giorgio G. Fumagalli, Chiara Fenoglio, Tiziana Carandini, Andrea Arighi, Daniela Galimberti, Emanuela Rotondo, Anna M. Pietroboni, Marta Scarioni, and Maria Serpente

Subjects
Genetics, Psen1 mutation, Epidemiology, Genetic heterogeneity, Health Policy, Late onset, Disease, Biology, medicine.disease, Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, medicine, Neurology (clinical), Geriatrics and Gerontology, Presentation (obstetrics), Frontotemporal dementia
Published
2020

20. Subtype and stage inference identifies distinct atrophy patterns in genetic frontotemporal dementia that MAP onto specific MAPT mutations

Author

Sandro Sorbi, James B. Rowe, Matthis Synofzik, A. Danek, Martina Bocchetta, Johannes Levin, Markus Otto, Rhian S Convery, Fabrizio Tagliavini, Steven Williams, Daniel C. Alexander, Barbara Borroni, Mollie Neason, David L. Thomas, Jonathan D. Rohrer, Carmela Tartaglia, Alexandre de Mendonça, Giovanni B. Frisoni, David M. Cash, Katrina M. Moore, Roberta Ghidoni, Alexander Gerhard, Elizabeth Finger, Alexandra L. Young, Isabel Santana, Christopher C Butler, Fermin Moreno, Caroline Graff, John C. van Swieten, Mario Masellis, Raquel Sánchez-Valle, Robert Laforce, Simon Ducharme, Daniela Galimberti, and Rik Vandenberghe

Subjects
Epidemiology, Health Policy, Neurodegeneration, Inference, Biology, medicine.disease, Psychiatry and Mental health, Cellular and Molecular Neuroscience, Atrophy, Developmental Neuroscience, medicine, Neurology (clinical), Geriatrics and Gerontology, Stage (cooking), Neuroscience, Frontotemporal dementia
Published
2020

21. The Free Cued Selective Reminding Test detects episodic memory impairment in the presymptomatic period of familial frontotemporal dementia within the GENFI cohort

Author

Alexandre de Mendonça, Esther van den Berg, Christopher C Butler, Fabrizio Tagliavini, Alexander Gerhard, Georgia Peakman, Janne M. Papma, Johannes Levin, James B. Rowe, Markus Otto, Katrina M. Moore, Elizabeth Finger, Jackie M. Poos, A. Danek, Simon Ducharme, Jonathan D. Rohrer, Daniela Galimberti, Carmela Tartaglia, Isabel Santana, Rik Vandenberghe, Caroline V. Greaves, Robert Laforce, Raquel Sánchez-Valle, Martina Bocchetta, Matthis Synofzik, Caroline Graff, Lize C. Jiskoot, John C. van Swieten, Mario Masellis, Lucy L. Russell, Fermin Moreno, and Barbara Borroni

Subjects
Cued speech, medicine.medical_specialty, Epidemiology, business.industry, Health Policy, Period (gene), Neuropsychology, Audiology, medicine.disease, Test (assessment), Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, Cohort, medicine, Neurology (clinical), Geriatrics and Gerontology, Cognitive decline, business, Episodic memory, Frontotemporal dementia
Published
2020

22. Trajectory of apathy, cognition and neural correlates in the decades before symptoms in frontotemporal dementia

Author

Roberta Ghidoni, Matthis Synofzik, Elizabeth Finger, Timothy Rittman, Kamen A. Tsvetanov, James B. Rowe, Caroline Graff, Georgia Peakman, Fabrizio Tagliavini, Johannes Levin, Alexandre de Mendonça, A. Danek, Giovanni B. Frisoni, Isabel Santana, Rhian S Convery, Carmela Tartaglia, Markus Otto, John C. van Swieten, Alexander Gerhard, Jonathan D. Rohrer, Simon Ducharme, P. Simon Jones, Maura Malpetti, Rogier A. Kievit, Fermin Moreno, Carolin Heller, Robert Laforce, Emily Todd, Daniela Galimberti, Raquel Sánchez-Valle, Rik Vandenberghe, Christopher C Butler, Barbara Borroni, Mario Masellis, Katrina M. Moore, and Martina Bocchetta

Subjects
Gerontology, Neural correlates of consciousness, Epidemiology, Health Policy, Cognition, medicine.disease, Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, Ageing, medicine, Dementia, Apathy, Neurology (clinical), Geriatrics and Gerontology, medicine.symptom, Association (psychology), Psychology, Frontotemporal dementia
Published
2020

23. Comparison of arterial spin labeling registration strategies in the multi-center GENetic frontotemporal dementia initiative (GENFI)

Author

Pietro Tiraboschi, Gemma Lombardi, Martin Rossor, Carmela Tartaglia, Cristina Polito, James Rowe, Rick Van Minkelen, Francesca Bendetta Pizzini, Robert Jr Laforce, Daniela Galimberti, Giovanni B. Frisoni, Jonathan Rohrer, Giorgio Giulio Fumagalli, Sebastien Ourselin, Carolina Maruta, Enrico De Vita, Elizabeth Finger, Miguel Castelo-Branco, Roberta Ghidoni, Matthias Van Osch, Sandro Sorbi, Alessandro Padovani, David Cash, Luisa Benussi, Caroline Graff, Henk Mutsaerts, Enrico Premi, David Thomas, Jan Petr, Bradley MacIntosh, SARA PRIONI, Marina Grisoli, Fabrizio Tagliavini, Martina Bocchetta, Andrea Arighi, Jason Warren, Benedetta NACMIAS, and Lieke Meeter

Subjects
Masking (art), business.industry, Image quality, Image registration, Image processing, Pearson product-moment correlation coefficient, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Cerebral blood flow, FMRIB Software Library, symbols, Radiology, Nuclear Medicine and imaging, Nuclear medicine, business, Image resolution, 030217 neurology & neurosurgery, Mathematics
Abstract

Purpose: To compare registration strategies to align arterial spin labeling (ASL) with 3D T1-weighted (T1w) images, with the goal of reducing the between-subject variability of cerebral blood flow (CBF) images. Materials and Methods: Multi-center 3T ASL data were collected at eight sites with four different sequences in the multi-center GENetic Frontotemporal dementia Initiative (GENFI) study. In a total of 48 healthy controls, we compared the following image registration options: (I) which images to use for registration (perfusion-weighted images [PWI] to the segmented gray matter (GM) probability map (pGM) (CBF-pGM) or M0 to T1w (M0-T1w); (II) which transformation to use (rigid-body or non-rigid); and (III) whether to mask or not (no masking, M0-based FMRIB software library Brain Extraction Tool [BET] masking). In addition to visual comparison, we quantified image similarity using the Pearson correlation coefficient (CC), and used the Mann-Whitney U rank sum test. Results: CBF-pGM outperformed M0-T1w (CC improvement 47.2% ± 22.0%; P < 0.001), and the non-rigid transformation outperformed rigid-body (20.6% ± 5.3%; P < 0.001). Masking only improved the M0-T1w rigid-body registration (14.5% ± 15.5%; P = 0.007). Conclusion: The choice of image registration strategy impacts ASL group analyses. The non-rigid transformation is promising but requires validation. CBF-pGM rigid-body registration without masking can be used as a default strategy. In patients with expansive perfusion deficits, M0-T1w may outperform CBF-pGM in sequences with high effective spatial resolution. BET-masking only improves M0-T1w registration when the M0 image has sufficient contrast. Level of Evidence: 1. Technical Efficacy: Stage 1. J. Magn. Reson. Imaging 2018;47:131–140.

Published
2017

24. P2‐179: STAVUDINE INHIBITS INFLAMMASOME ACTIVATION MOLECULAR INHIBITOR IN PERIPHERAL‐MONOCYTES OF AD PATIENTS

Author

Ivana Marventano, Daniela Galimberti, Mario Clerici, Francesca La Rosa, Chiara Fenoglio, Federica Piancone, and Marina Saresella

Subjects
Epidemiology, business.industry, Health Policy, Stavudine, Inflammasome, Pharmacology, Peripheral, Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, medicine, Neurology (clinical), Geriatrics and Gerontology, business, medicine.drug
Published
2018

25. P1-380: EARLY REGIONAL HYPOMETABOLISM IN PRE-SYMPTOMATIC CARRIERS OF MAPT : A GENFI SUB-STUDY

Author

John C. van Swieten, David M. Cash, Jason D. Warren, Frédéric St-Onge, Barbara Borroni, Giovanni B. Frisoni, Mirza Faisal Beg, Fabrizio Tagliavini, Daniela Galimberti, Sandro Sorbi, Carmela Tartaglia, Robert Laforce, Popuri Karteek, Caroline Graff, Mario Masellis, Martina Bocchetta, Alexandre de Mendonça, Katrina M. Dick, James B. Rowe, Jean-Mathieu Beauregard, Jonathan D. Rohrer, and Elizabeth Finger

Subjects
Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, Epidemiology, Health Policy, Neurology (clinical), Geriatrics and Gerontology
Published
2019

26. Rapidly progressive primary progressive aphasia and parkinsonism with novel GRN mutation

Author

Chiara Fenoglio, Federico Rodriguez-Porcel, Daniela Galimberti, Alberto J. Espay, Adrian L. Oblak, Maria Serpente, Emanuela Oldoni, Marina Arcaro, Bernardino Ghetti, Elio Scarpini, Matthew C. Hagen, and Sara M G Cioffi

Subjects
0301 basic medicine, Pathology, medicine.medical_specialty, business.industry, Parkinsonism, medicine.disease, Primary progressive aphasia, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neurology, Mutation (genetic algorithm), Medicine, Neurology (clinical), business, 030217 neurology & neurosurgery
Published
2016

27. Outcome of retinoblastoma patients treated according to the University Hospital of Siena guidelines

Author

Theodora Hadjistilianou, Paolo Galluzzi, C. Favre, Sandra Bracco, Paolo Toti, G. Coriolani, G. Esposti, Mauro Caini, S. Grosso, Daria Guglielmucci, Daniela Galimberti, S De Francesco, and Anna Maria Pinto

Subjects
Chemotherapy, medicine.medical_specialty, Retinoblastoma, business.industry, medicine.medical_treatment, Enucleation, General Medicine, medicine.disease, University hospital, Surgery, Conservative treatment, Ophthalmology, Second line, Patient age, medicine, Stage (cooking), business
Abstract

Purpose To analyze the results of Retinoblastoma (Rb) treatment according to the University Hospital of Siena guidelines in terms of complete ophthalmoscopic remission (COR) of disease. Methods A total of 109 eyes of 87 patients were enrolled from September 2013 to November 2016. The mean patient age at diagnosis was 22.8 months (± sd 20.5 months). Sixtysix/109 eyes (60.55% of cases) were unilateral, 42 (38.53%) bilateral. Thirtyfive/109 (32.11%) were classified as low stage (A-C of ICRB classification), 36 (33.03%) as D stage and 31 (28.44%) as E stage. Interventions: Conservative treatment with intravenous (IV) chemotherapy (CHT) and/or intrarterial (IA) CHT, both as first or second line therapies; primary or secondary enucleation. Results Fourtysix/109 eyes (42.20%) received primary IV CHT, 40 (36.70%) primary IA CHT and 22 (20.1%) were enucleated at diagnosis. Twentyfive eyes (22.9%) were treated with secondary IA CHT (for failure of IV CHT, the majority being bilateral cases), 4 (3.6%) with second line IV CHT (mainly thermo-CHT after IA CHT). Twentythree/109 eyes (21.1%) were secondary enucleated. Globe salvage with COR of disease has been obtained by 53/109 eyes (49% of all cases, 60.9% of the treated ones), in particular: by the 32.5% of the eyes treated with primary IV CHT, by the 52.5% of those treated with primary IA CHT and by the 60% of the eyes treated with secondary IA CHT. Mean follow-up is of 21.9 months (± sd 16.9 months). Conclusions These results confirm the efficacy of our guidelines for Rb treatment. Particularly we obtained a better ocular salvage rate (p > χ2 = 0.0007, Mantel Cox Comparisons) for the cases treated with secondary IA CHT than with primary IA CHT. This observation demonstrates the efficacy of IA CHT even in recurrences of Rb after primary IV CHT, if early detected with a close follow-up.

Published
2017

28. [IC‐P‐079]: MULTIPLE DISTINCT ATROPHY PATTERNS FOUND IN GENETIC FRONTOTEMPORAL DEMENTIA USING SUBTYPE AND STAGE INFERENCE (SUSTAIN)

Author

Robert Laforce, John C. van Swieten, Alexandre de Mendonça, Katrina M. Dick, Razvan V. Marinescu, Daniela Galimberti, Daniel C. Alexander, Fabrizio Tagliavini, Mario Masellis, Barbara Borroni, Sandro Sorbi, Neil P. Oxtoby, James B. Rowe, Maria Carmela Tartaglia, Jonathan M. Schott, Nick C. Fox, David L. Thomas, Jonathan D. Rohrer, Giovanni B. Frisoni, Elizabeth Finger, Sebastien Ourselin, Alexandra L. Young, David M. Cash, Martina Bocchetta, Caroline Graff, and M. Jorge Cardoso

Subjects
Epidemiology, Health Policy, Inference, Biology, medicine.disease, Psychiatry and Mental health, Cellular and Molecular Neuroscience, Atrophy, Developmental Neuroscience, medicine, Neurology (clinical), Geriatrics and Gerontology, Stage (cooking), Neuroscience, Frontotemporal dementia
Published
2017

29. [IC‐03–04]: WHITE MATTER HYPERINTENSITIES IN GENETIC FRONTOTEMPORAL DEMENTIA: A GENFI STUDY

Author

Carole H. Sudre, Elizabeth Finger, David L. Thomas, Sebastien Ourselin, Jonathan D. Rohrer, Daniela Galimberti, Barbara Borroni, M. Jorge Cardoso, Martina Bocchetta, Robert Laforce, Fabrizio Tagliavini, Alexandre de Mendonça, Ione O.C. Woollacott, David M. Cash, Maria Carmela Tartaglia, James B. Rowe, Sandro Sorbi, Katrina M. Dick, Caroline Graff, Giovanni B. Frisoni, Mario Masellis, and John C. van Swieten

Subjects
medicine.medical_specialty, Epidemiology, Health Policy, medicine.disease, Hyperintensity, Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, medicine, Neurology (clinical), Geriatrics and Gerontology, Psychiatry, Psychology, Frontotemporal dementia
Published
2017

30. [P1–029]: IN GENETIC FRONTOTEMPORAL DEMENTIA, FUNCTIONAL NETWORK EFFICIENCY IS MAINTAINED UNTIL THE ONSET OF SYMPTOMS: EVIDENCE FOR FUNCTIONAL RESILIENCE TO STRUCTURAL CHANGE

Author

Alexandre de Mendonça, Robin J Borchert, Sandro Sorbi, Jonathan D. Rohrer, James B. Rowe, P. Simon Jones, Robert Laforce, Fabrizio Tagliavini, Barbara Borroni, Elizabeth Finger, Daniela Galimberti, Giovanni B. Frisoni, Caroline Graff, Timothy Rittman, John C. van Swieten, and Mario Masellis

Subjects
Epidemiology, Health Policy, medicine.disease, Developmental psychology, Functional networks, Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, medicine, Neurology (clinical), Geriatrics and Gerontology, Psychology, Resilience (network), Frontotemporal dementia
Published
2017

31. [P4–189]: SYMPTOM ONSET IN GENETIC FRONTOTEMPORAL DEMENTIA

Author

Alexandre de Mendonça, Maria Carmela Tartaglia, Edward D. Huey, Matthis Synofzik, Isabelle Le Ber, John C. van Swieten, Jennifer M. Nicholas, Johannes Levin, Ian R. A. Mackenzie, Erik D. Roberson, Robert Laforce, Florence Pasquier, Markus Otto, Philippe Couratier, Nupur Ghoshal, Sokratis G. Papageorgiou, Jonathan D. Rohrer, Mario Masellis, Caroline Graff, Raquel Sánchez-Valle, Christopher C Butler, Adam L. Boxer, Giovanni B. Frisoni, Adeline Su Lyn Ng, Katrina M. Dick, Bradley F. Boeve, Sandro Sorbi, John R. Hodges, Howard J. Rosen, Simon Ducharme, Emily Rogalski, Fabrizio Tagliavini, Barbara Borroni, Isabel Santana, Daniela Galimberti, Chiadi U. Onyike, Rik Vandenberghe, Amy Brodtmann, Elizabeth Finger, Fermin Moreno, Olivier Martinaud, Alexander Gerhard, James B. Rowe, Bradford C. Dickerson, and Murray Grossman

Subjects
Pediatrics, medicine.medical_specialty, Epidemiology, business.industry, Health Policy, 030204 cardiovascular system & hematology, medicine.disease, 03 medical and health sciences, Psychiatry and Mental health, Cellular and Molecular Neuroscience, 0302 clinical medicine, Developmental Neuroscience, medicine, Neurology (clinical), Symptom onset, Geriatrics and Gerontology, business, 030217 neurology & neurosurgery, Frontotemporal dementia
Published
2017

32. [P1–437]: PRESYMPTOMATIC WHITE MATTER INTEGRITY LOSS IN FAMILIAL FRONTOTEMPORAL DEMENTIA IN THE GENETIC FRONTOTEMPORAL DEMENTIA INITIATIVE (GENFI) COHORT: A MULTI‐CENTRE, CROSS‐SECTIONAL, DIFFUSION TENSOR IMAGING STUDY

Author

Alexandre de Mendonça, Robert Laforce, Caroline Graff, Giovanni B. Frisoni, Lize C. Jiskoot, James B. Rowe, Barbara Borroni, Fabrizio Tagliavini, Jennifer M. Nicholas, Maria Carmela Tartaglia, Daniela Galimberti, Jonathan D. Rohrer, Martina Bocchetta, John C. van Swieten, David M. Cash, Mario Masellis, Sandro Sorbi, Janne M. Papma, Elizabeth Finger, and Marc Modat

Subjects
medicine.medical_specialty, Epidemiology, business.industry, Health Policy, medicine.disease, White matter, Psychiatry and Mental health, Cellular and Molecular Neuroscience, Physical medicine and rehabilitation, medicine.anatomical_structure, Developmental Neuroscience, Cohort, medicine, Neurology (clinical), Geriatrics and Gerontology, Multi centre, business, Diffusion MRI, Frontotemporal dementia
Published
2017

33. P2-183: ANALYSIS OF IL-33 AND ITS DECOY RECEPTOR SST2 IN ALZHEIMER'S DISEASE AND MILD COGNITIVE IMPAIRMENT PATIENTS

Author

Ivana Marventano, Mario Clerici, Federica Piancone, Chiara Fenoglio, Elio Scarpini, Francesca La Rosa, Marina Saresella, and Daniela Galimberti

Subjects
Epidemiology, business.industry, Health Policy, Disease, Interleukin 33, Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, Immunology, Medicine, Neurology (clinical), Geriatrics and Gerontology, Cognitive impairment, Decoy, Receptor, business
Published
2019

34. P2-182: DEFECTIVE MIRNA-223-MEDIATED REGULATION OF NLRP3 INFLAMMASOME ACTIVATION IN ALZHEIMER'S DISEASE

Author

Daniela Galimberti, Mario Clerici, Marina Saresella, Chiara Fenoglio, Elio Scarpini, Federica Piancone, Francesca La Rosa, Roberta Mancuso, Ambra Hernis, and Ivana Marventano

Subjects
Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, Epidemiology, Health Policy, microRNA, Neurology (clinical), NLRP3 inflammasome activation, Disease, Geriatrics and Gerontology, Biology, Cell biology
Published
2019

35. O4-03-06: LONGITUDINAL ASSOCIATION BETWEEN APATHY AND COGNITIVE DECLINE IN PRE- AND POST-SYMPTOMATIC GENETIC FRONTOTEMPORAL DEMENTIA

Author

Johannes Levin, Matthis Synofzik, Rhian S Convery, Markus Otto, Alexandre de Mendonça, John C. van Swieten, Maura Malpetti, Fermin Moreno, Raquel Sánchez-Valle, Rogier A. Kievit, P. Simon Jones, Carolin Heller, Kamen A. Tsvetanov, Isabel Santana, Robert Laforce, Adrian Danek, Mario Masellis, Simon Ducharme, Elizabeth Finger, Jonathon D. Rohrer, Timothy Rittman, Christopher C Butler, Daniela Galimberti, Stefano F. Cappa, Rik Vandenberghe, Carmela Tartaglia, Fabrizio Tagliavini, James B. Rowe, Barbara Borroni, Alexander Gerhard, Katrina M. Dick, Caroline Graff, and Giovanni B. Frisoni

Subjects
medicine.medical_specialty, Epidemiology, business.industry, Health Policy, medicine.disease, Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, medicine, Apathy, Neurology (clinical), Geriatrics and Gerontology, Cognitive decline, medicine.symptom, Psychiatry, business, Association (psychology), Pre and post, Frontotemporal dementia
Published
2019

36. Lack of adiponectin leads to increased lymphocyte activation and increased disease severity in a mouse model of multiple sclerosis

Author

Jacob G. Henderson, Daniela Galimberti, Lawrence Chan, Laura Piccio, Robert Mikesell, Viviana Cremasco, Michael J. Ramsbottom, Wesley Haynes, Anne H. Cross, Jiyoon Ryu, Chyi-Song Hsieh, Claudia Cantoni, Daniel Hawiger, and Lily Q. Dong

Subjects
medicine.medical_specialty, Adiponectin, Multiple sclerosis, Immunology, Adipokine, FOXP3, Biology, medicine.disease, Interleukin 10, Myelin, Immune system, medicine.anatomical_structure, Endocrinology, Internal medicine, medicine, Immunology and Allergy, Interleukin 17
Abstract

Multiple sclerosis (MS) is a presumed autoimmune disease directed against central nervous system (CNS) myelin, in which diet and obesity are implicated as risk factors. Immune responses can be influenced by molecules produced by fat cells, called adipokines. Adiponectin is an adipokine with anti-inflammatory effects. We tested the hypothesis that adiponectin has a protective role in the EAE model for MS, that can be induced by immunization with myelin antigens or transfer of myelin-specific T lymphocytes. Adiponectin deficient (ADPKO) mice developed worse EAE with greater CNS inflammation, demyelination, and axon injury. Lymphocytes from myelin-immunized ADPKO mice proliferated more, produced higher amounts of IFN-γ, IL-17, TNF-α, IL-6, and transferred more severe EAE than wild type (WT) lymphocytes. At EAE peak, the spleen and CNS of ADPKO had fewer regulatory T (Treg) cells than WT mice and during EAE recovery, Foxp3, IL-10 and TGF-β expression levels in the CNS were reduced in ADPKO compared with WT mice. Treatment with globular adiponectin in vivo ameliorated EAE, and was associated with an increase in Treg cells. These data indicate that adiponectin is an important regulator of T-cell functions during EAE, suggesting a new avenue of investigation for MS treatment.

Published
2013

37. Late intraocular relapses in retinoblastoma

Author

M. Borri, G. Coriolani, Sandra Bracco, Doris Hadjistilianou, Daniela Galimberti, F Menicacci, S. Defrancesco, Francis L. Munier, and Paolo Galluzzi

Subjects
Ophthalmology, medicine.medical_specialty, Retinoblastoma, business.industry, medicine, General Medicine, medicine.disease, business
Published
2016

38. S4‐01‐01: Cross‐Sectional Studies of Plasma Proteomic Biomarkers Relating to Pet Amyloid and CSF Amyloid and Tau

Author

Charlotte E. Teunissen, Daniela Galimberti, Abdul Hye, Alison L. Baird, Sarah Westwood, Cristina Tan Hehir, Keyur Desai, Benjamine Young Liu, Chantal Bazenet, Malcolm Ward, Steven J. Kiddle, David Baker, Ben Newton, John Frederick Graf, Simon Lovestone, Lucilla Parnetti, Nicholas J. Ashton, Alberto Lleó, Madhav Thambisetty, and Philip Scheltens

Subjects
Psychiatry and Mental health, Cellular and Molecular Neuroscience, Pathology, medicine.medical_specialty, Developmental Neuroscience, Amyloid, Epidemiology, business.industry, Health Policy, medicine, Neurology (clinical), Geriatrics and Gerontology, business
Published
2016

39. O5‐05‐03: Novel CSF Biomarkers Discriminating FTLD‐TDP from Non‐Demented Controls

Author

William T. Hu, Naura Elias, Charlotte E. Teunissen, Marleen J.A. Koel-Simmelink, Daniela Galimberti, Marta Del Campo, and Lynn Boonkamp

Subjects
Psychiatry and Mental health, Cellular and Molecular Neuroscience, Pathology, medicine.medical_specialty, Developmental Neuroscience, Epidemiology, Health Policy, Ftld tdp, Csf biomarkers, medicine, Neurology (clinical), Geriatrics and Gerontology
Published
2016

40. P1‐025: Cerebral Perfusion as an Imaging Biomarker of Presymptomatic Genetic Frontotemporal Dementia: Preliminary Results from the Genetic Frontotemporal Dementia Initiative (GENFI)

Author

Maria Carmela Tartaglia, Pietro Tiraboschi, Vesna Jelic, Christin Andersson, Miklos Espak, Håkan Thonberg, Ian Coyle-Gilchrist, Giorgio G. Fumagalli, Elise G.P. Dopper, Rosa Rademakers, Jennifer M. Nicholas, Christen Shoesmith, Joanne Knight, Enrico De Vita, Serge A.R.B. Rombouts, Caroline Graff, Daniela Galimberti, Ekaterina Rogaeva, Jason D. Warren, David M. Cash, Rick van Minkelen, Morris Freedman, Bradley J. MacIntosh, M. Jorge Cardoso, David F. Tang-Wai, Lena Lilius, Martina Bocchetta, Veronica Redaelli, Marina Grisoli, Fabrizio Tagliavini, Sara Prioni, Ron Keren, Martin N. Rossor, Marie Fallström, Elio Scarpini, Henri J.M.M. Mutsaerts, Linn Öijerstedt, Lize C. Jiskoot, James B. Rowe, Elizabeth Finger, Sebastien Ourselin, Andrea Arighi, Katrina M. Dick, Nick C. Fox, David L. Thomas, Jonathan D. Rohrer, Simon Mead, Robert Laforce, Sandra E. Black, Mario Masellis, and John C. van Swieten

Subjects
medicine.medical_specialty, Pathology, Neurology, Imaging biomarker, Epidemiology, Health Policy, Putamen, Caudate nucleus, Grey matter, medicine.disease, Psychiatry and Mental health, Cellular and Molecular Neuroscience, medicine.anatomical_structure, Developmental Neuroscience, Cerebral blood flow, Internal medicine, mental disorders, medicine, Cardiology, Biomarker (medicine), Neurology (clinical), Geriatrics and Gerontology, Psychology, Frontotemporal dementia
Abstract

Background Frontotemporal dementia (FTD) is a common cause of early onset dementia. While three genetic mutations are responsible for the majority of genetic FTD, imaging biomarkers that predict symptom onset are needed1. Recent work shows volumetric changes several years before the predicted age at disease onset2. Herein, we extend on this work by investigating whether perfusion patterns derived from non-invasive arterial spin labeling (ASL) MRI can be used as an early functional neuroimaging biomarker of presymptomatic genetic FTD. Methods Data were drawn from the GENetic Frontotemporal dementia Initiative (GENFI)2. From the first GENFI data freeze (n=220), 168 subjects had 3T ASL from which this analysis considers only the presymptomatic carriers and controls (n=144, Table 1). Cerebral blood flow (CBF)-maps were scaled to a mean grey matter (GM) CBF of 50 mL/100g/min per ASL sequence (four different ASL sequences were used) and registered to SPM12 3D T1 GM segmentations that were registered to MNI using DARTEL. In pre-selected ROIs associated with FTD, we investigated the effects of mutation status and years to expected age of disease onset on CBF, accounting for gender and family membership as fixed and random covariates. ROI CBF-values were corrected for partial volume fractions. Results Years to expected age of disease onset (p 0.1), there was an interaction effect between mutation carrier status and years to expected age of disease onset on CBF (Table 2). This interaction effect was significant for all ROIs except for the parietal and occipital cortices, anterior cingulate and putamen with the strongest effects being seen in the insula and the caudate nucleus (Figure 1). Conclusions CBF decreased as individuals approached the expected age of disease onset and this CBF decrease was accelerated in the presymptomatic mutation carriers compared to controls, in key regions implicated in FTD. These preliminary findings demonstrate the potential utility of non-invasive perfusion MRI as an early biomarker for genetic FTD. References 1. Montine et al., Neurology 2014 2. Rohrer et al., Lancet Neurol 2015

Published
2016

41. Lack of replication ofKIF1Bgene in an Italian primary progressive multiple sclerosis cohort

Author

Vittorio Martinelli, F. Martinelli-Boneschi, Diego Scalabrini, Giancarlo Comi, Daniela Galimberti, Federica Esposito, Bruno Colombo, Chiara Fenoglio, M. De Riz, L. Collimedaglia, Paolo Brambilla, Elio Scarpini, Angelo Ghezzi, Maria Serpente, Gabriella Coniglio, Mariaemma Rodegher, Ruggero Capra, and Claudia Cantoni

Subjects
Oncology, medicine.medical_specialty, Pathology, business.industry, Multiple sclerosis, Single-nucleotide polymorphism, Disease, Odds ratio, medicine.disease, Confidence interval, Neurology, Internal medicine, Epidemiology, Cohort, Medicine, Neurology (clinical), Risk factor, business
Abstract

Background: KIF1B gene represents the first non-inflammatory gene with a putative role on axonal loss and neurodegeneration found to be associated with multiple sclerosis (MS). The objective of this study is to test the association of the rs10492972 C allelic variant of KIF1B gene in a large Italian cohort of patients with primary progressive and progressive relapsing MS (PPMS and PRMS), which represents a subtype of MS mainly driven by neurodegenerative phenomena. Methods: rs10492972 has been genotyped in an outbred sample of 222 primary PPMS and PRMS and 221 healthy controls of unique northern Italian origin using the TaqMan assay. Results: A non-significant age- and sex-adjusted odds ratio of 0.96 [95% confidence interval (CI) 0.71–1.31] has been found in C carriers, and a non-significant risk of 0.99 [95% CI 0.77–1.63] in C carriers according to a dominant model. Stratification by sex, age at onset younger than 35 years and symptoms at the onset of the disease did not reveal any significant findings. No influence on disability progression, measured with the multiple sclerosis severity score, was found in C carriers. Conclusions: These results suggest that there is no effect in carrying the rs10492972 C variant on the risk of disease as well as on the rate of disability progression in a cohort of Italian patients with PPMS and patients with PRMS. These data need to be confirmed in an independent sample of patients with progressive MS.

Published
2010

42. TheCST3B haplotype is associated with frontotemporal lobar degeneration

Author

Daniela Galimberti, Giovanni B. Frisoni, Roberta Ghidoni, Boccardi Marina, Elio Scarpini, Giuliano Binetti, Luisa Benussi, Marina Boccardi, and Giovanni Frisoni

Subjects
Pathology, medicine.medical_specialty, biology, business.industry, Haplotype, nutritional and metabolic diseases, Single-nucleotide polymorphism, Frontotemporal lobar degeneration, Odds ratio, medicine.disease, nervous system diseases, Neurology, Cystatin C, mental disorders, Immunology, Genotype, biology.protein, Medicine, Dementia, Neurology (clinical), Allele, business
Abstract

Background and purpose: Frontotemporal lobar degeneration (FTLD) is a common cause of early-onset dementia. Given the role of cystatin C in brain neurodegeneration and neuroregeneration, the aim of this study was to determine whether the cystatin C gene (CST3) was genetically associated with FTLD. Methods: Hundred and eighty-six FTLD patients and 457 controls underwent CST3 analysis by PCR and KspI enzyme digestion. Results: In FTLD patients negative for the presence of PGRN mutations, we found an over-representation of the CST3 haplotype B [odds ratio (OR = 1.619, P = 0.002)] and of AB/BB genotypes (OR = 1.704, P = 0.008) in FTLD patients. Conclusions: The present study indicated the CST3 B haplotype as a putative risk factor for FTLD in PGRN mutations negative patients. The reduced level of cystatin C, previously associated with the B haplotype, might represent the molecular factor responsible for the increased risk. Long-term depletion of neurotrophic factors, such as cystatin C and progranulin proteins, seem to be a common theme in FTLD: boosting the expression of such proteins might be a promising therapeutic strategy for FTLD.

Published
2009

43. Novel exon 1 progranulin gene variant in Alzheimer’s disease

Author

Stefano F. Cappa, Simone Pomati, E. Dalla Valle, Chiara Villa, Francesca Cortini, Claudio Mariani, Francesca Clerici, Daniela Galimberti, Diego Scalabrini, Ilaria Guidi, Elio Scarpini, Alessandra Marcone, Chiara Fenoglio, Eliana Venturelli, and Nereo Bresolin

Subjects
Silent mutation, Genetics, Mutation, business.industry, Frontotemporal lobar degeneration, medicine.disease, medicine.disease_cause, Peripheral blood mononuclear cell, Exon, Neurology, Polymorphism (computer science), RNA splicing, Medicine, Neurology (clinical), Allele, business
Abstract

Background and purpose: Progranulin (PGRN) expression is increased in activated microglia in Alzheimer's disease (AD) brain, suggesting a potential role in this pathology. Methods: A mutation scanning of exons and flanking regions of PGRN was carried out in 120 patients with sporadic frontotemporal lobar degeneration and 145 with sporadic AD. Results: Amongst variants not yet deposited, a novel allelic variant was identified in Exon 1 (g100169G > A). It leads to an amino acidic change (p.Gly35Arg) and was observed in a patient with late onset AD. In silico analysis predicted that this mutation is possibly damaging. A second variant (g.100165C > T), resulting in a silent mutation (pAsp33Asp), was found in a patient with semantic dementia and in another with early onset AD. Both variants were absent in 226 controls. In addition, two rare non-pathogenic variants lying very close to PGRN splice-site regions (IVS2 + 7G > A and IVS7 + 7G > A) were observed. Transcriptional analysis in peripheral blood mononuclear cells from patients demonstrated they do not affect exon splicing. Conclusions: A novel putative PGRN mutation leading to an amino acidic substitution was identified in a patient with clinical AD.

Published
2008

44. IC‐P‐054: Grey matter differences in genetic frontotemporal dementia: Results from the genfi study

Author

Giovanni B. Frisoni, Martin N. Rossor, James B. Rowe, Caroline Graff, Mario Masellis, Miklos Espak, Alexander D. Fellows, David M. Cash, Sandro Sorbi, Katrina M. Dick, Barbara Borroni, John C. van Swieten, Daniela Galimberti, Robert Laforce, Alexandre de Mendonça, Fabrizio Tagliavini, Jonathan D. Rohrer, Elizabeth Finger, and Sebastien Ourselin

Subjects
Epidemiology, Health Policy, Grey matter, medicine.disease, Psychiatry and Mental health, Cellular and Molecular Neuroscience, medicine.anatomical_structure, Developmental Neuroscience, medicine, Neurology (clinical), Geriatrics and Gerontology, Psychology, Clinical psychology, Frontotemporal dementia
Published
2015

45. F2‐03‐04: Genetic risk factors for posterior cortical atrophy

Author

Yolande A.L. Pijnenburg, Julie S. Snowden, Eulogio Gil-Néciga, Timothy J. Shakespeare, Aida Suarez Gonzalez, John Hardy, Bruno Dubois, John R. Hodges, Dennis W. Dickson, Douglas Galasko, Nick C. Fox, Stuart Pickering-Brown, Marie Sarazin, Stefano F. Cappa, Eva Louwersheimer, Glenda M. Halliday, Minerva M. Carrasquillo, David S. Knopman, Natalie S. Ryan, Sebastian J. Crutch, Jonathan M. Schott, Jenny Harris, Bradley F. Boeve, Nilufer Taner, Eloi Magnin, Martin N. Rossor, Gil D. Rabinovici, Lauren Bartley, Neil Graff-Radford, Melissa E. Murray, John Collinge, James Uphill, Ronald C. Petersen, Jose Bras, Manja Lehmann, Simon Mead, Philip Scheltens, Daniela Galimberti, Khan Qurat ul Ain, Wiesje M. van der Flier, and Elio Scarpini

Subjects
Pathology, medicine.medical_specialty, Epidemiology, business.industry, Health Policy, Posterior cortical atrophy, Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, medicine, Neurology (clinical), Geriatrics and Gerontology, Genetic risk, business
Published
2015

46. O2‐01‐01: Grey matter differences in genetic frontotemporal dementia: Results from the genfi study

Author

James B. Rowe, Sandro Sorbi, Elizabeth Finger, Martin N. Rossor, Alexandre de Mendonça, David M. Cash, Katrina M. Dick, John C. van Swieten, Robert Laforce, Mario Masellis, Giovanni B. Frisoni, Sebastien Ourselin, Miklos Espak, Daniela Galimberti, Alexander D. Fellows, Caroline Graff, Barbara Borroni, Jonathan D. Rohrer, and Fabrizio Tagliavini

Subjects
Pediatrics, medicine.medical_specialty, Epidemiology, business.industry, Health Policy, Disease, medicine.disease, Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, Neuroimaging, medicine, Neurology (clinical), Geriatrics and Gerontology, business, Frontotemporal dementia
Published
2015

47. P4‐009: Frontotemporal dementia and parkinsonism linked to chromosome 17 granulin: Clinical and pathologic study of a patient from a new pedigree

Author

Adrian L. Oblak, Federico Rodriguez-Porcel, Bernardino Ghetti, Marwah M. Abdulkader, Albert Espay, Matthew C. Hagen, Chiara Fenoglio, Jill R. Murrell, Sara M G Cioffi, Daniela Galimberti, and Elio Scarpini

Subjects
Pathology, medicine.medical_specialty, Epidemiology, business.industry, Health Policy, Granulin, medicine.disease, Frontotemporal dementia and parkinsonism linked to chromosome 17, Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, Medicine, Neurology (clinical), Geriatrics and Gerontology, business
Published
2015

48. P1‐115: Consensus guidelines to perform lumbar puncture for CSF sampling in patients with neurological conditions

Author

Gerwin Roks, José-Luis Molinuevo, Bernhard Hemmer, Hanne Struyfs, Sharmilee Gnanapavan, Alberto Lleó, Henrik Zetterberg, Jakub Hort, Guy Nagels, Martin Ingelsson, Manuel Comabella, Jens Kuhle, Michael Jonsson, Flora H. Duits, Anders Wall, Alexandre de Mendonça, Bengt Winblad, Charlotte E. Teunissen, Daniela Galimberti, Wiesje M. van der Flier, Ellis Niemantsverdriet, Sebastiaan Engelborghs, Philip Scheltens, Lucilla Parnetti, Kaj Blennow, Constance Skarsgard, Ellen Iacobaeus, Irena Dujmovic, Erik Stomrud, Hayrettin Tumani, Frank Jan de Jong, Michael Khalil, Pieter Jelle Visser, Erik Hoff, Claire Paquet, and Raf Brouns

Subjects
medicine.medical_specialty, medicine.diagnostic_test, Epidemiology, Lumbar puncture, business.industry, Health Policy, Surgery, Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, Anesthesia, medicine, In patient, Sampling (medicine), Neurology (clinical), Geriatrics and Gerontology, business
Published
2015

50. Vascularized vitreous seeding regression following systemic and intravitrealchemotherapy for advanced 'late' retinoblastoma

Author

M. Borri, L Micheli, Theodora Hadjistilianou, Mauro Caini, S De Francesco, Daniela Galimberti, Paolo Galluzzi, and F Menicacci

Subjects
Melphalan, medicine.medical_specialty, Vincristine, genetic structures, business.industry, Systemic chemotherapy, Retinoblastoma, Complete remission, Retinal, General Medicine, Vitreous seeding, medicine.disease, eye diseases, Surgery, Ophthalmology, chemistry.chemical_compound, chemistry, medicine, sense organs, business, Etoposide, medicine.drug
Abstract

Purpose To report the regression of vascularized vitreous seeding in advanced "late" retinoblastoma Methods Case report 8 year old girl with bilateral disease. The affected eye was the left eye (group D -ABC classification- and group VB -Reese Classification-) while the right eye presented two peripheral retinomas. Results Complete remission of the massive vascularized vitreous seeding was achieved and multiple retinal tumors regressed following six cycles of systemic chemotherapy (three drugs-carboplatin etoposide and vincristine) and four intravitreal injections with Melphalan (20 micrograms). Retinal tumors presented type I regression (calcified tumors) while massive vitreous seeding was replaced by spidernet fibrotic formations. Conclusion This case highlights the successful combination of three-drugs systemic chemotherapy with intravitreal melphalan in advanced "late" retinoblastoma presenting with vascularized vitreous seeding and multiple retinal tumors.

Published
2014

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